Von Hippel–Lindau tumor suppressor

VHL
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4WQO, 1LM8, 1LQB, 1VCB, 3ZRC, 3ZRF, 3ZTC, 3ZTD, 3ZUN, 4AJY, 4AWJ, 4B95, 4B9K, 4BKS, 4BKT, 4W9C, 4W9D, 4W9E, 4W9F, 4W9G, 4W9H, 4W9I, 4W9J, 4W9K, 4W9L
Identifiers
Aliases	VHL, HRCA1, RCA1, VHL1, pvon Hippel-Lindau tumor suppressor
External IDs	OMIM: 608537; MGI: 103223; HomoloGene: 465; GeneCards: VHL; OMA:VHL - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	10,153,667 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	113,608,594 bp
RNA expression pattern
	Top expressed in
	monocyte; ; ganglionic eminence; ; stromal cell of endometrium; ; ventricular zone; ; buccal mucosa cell; ; granulocyte; ; islet of Langerhans; ; lymph node; ; epithelium of colon; ; rectum;
	Top expressed in
	spermatid; ; dentate gyrus of hippocampal formation granule cell; ; medial ganglionic eminence; ; spermatocyte; ; cumulus cell; ; morula; ; granulocyte; ; ventricular zone; ; neural layer of retina; ; genital tubercle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ubiquitin protein ligase activity; transcription factor binding; ubiquitin-protein transferase activity; protein binding; enzyme binding;
Cellular component	cytoplasm; cytosol; VCB complex; membrane; nucleoplasm; endoplasmic reticulum; mitochondrion; nucleus;
Biological process	regulation of transcription, DNA-templated; protein stabilization; negative regulation of apoptotic process; negative regulation of transcription by RNA polymerase II; proteolysis; positive regulation of transcription, DNA-templated; positive regulation of cell differentiation; cell morphogenesis; regulation of transcription from RNA polymerase II promoter in response to hypoxia; negative regulation of transcription from RNA polymerase II promoter in response to hypoxia; negative regulation of cell population proliferation; negative regulation of gene expression; protein ubiquitination; post-translational protein modification; negative regulation of receptor signaling pathway via JAK-STAT;
	Sources:Amigo / QuickGO
Orthologs
	7428
	22346
	ENSG00000134086
	ENSMUSG00000033933
	P40337
	P40338
	NM_000551; NM_198156; NM_001354723
	NM_009507
	NP_000542; NP_937799; NP_001341652; NP_000542.1
	NP_033533
	Wikidata
View/Edit Human	View/Edit Mouse

The Von Hippel–Lindau tumor suppressor also known as pVHL is a protein that, in humans, is encoded by the VHL gene. Mutations of the VHL gene are associated with Von Hippel–Lindau disease, which is characterized by hemangioblastomas of the brain, spinal cord and retina. It is also associated with kidney and pancreatic lesions.